Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48974672A>C , CM000681.2:g.48974672A>C | GRCh38 |
| NC_000019.9:g.49477929A>C , CM000681.1:g.49477929A>C | GRCh37 |
| NC_000019.8:g.54169741A>C | NCBI36 |
| NG_012923.1:g.23682T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.1370T>G MANE Select | ENSP00000317904.3:p.Leu457Arg | |
| ENST00000263276.6:c.1178T>G | ENSP00000263276.6:p.Leu393Arg | |
| ENST00000323798.7:c.1370T>G | ENSP00000317904.3:p.Leu457Arg | |
| ENST00000472004.5:n.125T>G | ||
| ENST00000496048.1:n.277T>G | ||
| NM_001161587.1:c.1178T>G | NP_001155059.1:p.Leu393Arg | |
| NM_002103.4:c.1370T>G | NP_002094.2:p.Leu457Arg | |
| NR_027763.1:n.1429T>G | ||
| NM_002103.5:c.1370T>G MANE Select | NP_002094.2:p.Leu457Arg | |
| NM_001161587.2:c.1178T>G | NP_001155059.1:p.Leu393Arg | |
| NR_027763.2:n.1385T>G |